Volume 22; Issue 2

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Neuromuscular Disorders
Volume 22; Issue 2

Neuromuscular Disorders

Volume 22; Issue 2

1

179th ENMC international workshop: Pregnancy in women with neuromuscular disorders: 5–7 November 2010, Naarden, The Netherlands

Fiona Norwood, Sabine Rudnik-Schöneborn

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 139 KB

english, 2012

2

Current research on SMN protein and treatment strategies for spinal muscular atrophy

Emma Humphrey, Heidi R. Fuller, Glenn E. Morris

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 268 KB

english, 2012

3

The therapeutic misconception, decision making and informed consent: The ethics of trial participation for neuromuscular disorders

Pauline McCormack, Simon Woods, Lynn Hagger

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 80 KB

english, 2012

4

Acetylcholine receptor antibodies in patients with genetic myopathies: Clinical and biological significance

Russell J.M. Lane, Federico Roncaroli, Peter Charles, Dennis G. McGonagle, Richard W. Orrell

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 574 KB

english, 2012

5

A single 30 min treadmill exercise session is suitable for ‘proof-of concept studies’ in adult mdx mice: A comparison of the early consequences of two different treadmill protocols

Hannah Radley-Crabb, Jessica Terrill, Thea Shavlakadze, Joanne Tonkin, Peter Arthur, Miranda Grounds

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 775 KB

english, 2012

6

Double trouble: Spinal muscular atrophy type II and seropositive myasthenia gravis in the same patient

Manu Jokela, Bjarne Udd, Markku Päivärinta

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 81 KB

english, 2012

7

Clinical features in a series of fast channel congenital myasthenia syndrome

Jacqueline Palace, Daniel Lashley, Stephen Bailey, Sandeep Jayawant, Aisling Carr, John McConville, Stephanie Robb, David Beeson

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 164 KB

english, 2012

8

Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase

Fuminobu Sugai, Kousuke Baba, Keiko Toyooka, Wen-Chen Liang, Ichizo Nishino, Misaki Yamadera, Hisae Sumi, Harutoshi Fujimura, Yoshiro Nishikawa

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 265 KB

english, 2012

9

A novel MPZ mutation in Charcot–Marie–Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies

Madoka Iida, Haruki Koike, Tetsuo Ando, Makoto Sugiura, Masahiko Yamamoto, Fumiaki Tanaka, Gen Sobue

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 375 KB

english, 2012

10

Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

J. Kim, C. Jimenez-Mallebrera, A.R. Foley, M. Fernandez-Fuente, S.C. Brown, S. Torelli, L. Feng, C.A. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 897 KB

english, 2012

11

Autoimmune myasthenia gravis, immunotherapy and thymectomy in children

Tyson L. Ware, Monique M. Ryan, Andrew J. Kornberg

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 139 KB

english, 2012

12

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia

Sayuri Sukigara, Wen-Chen Liang, Hirofumi Komaki, Tokiko Fukuda, Takeshi Miyamoto, Takashi Saito, Yoshiaki Saito, Eiji Nakagawa, Kenji Sugai, Yukiko K. Hayashi, Hideo Sugie, Masayuki Sasaki, Ichizo Ni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 653 KB

english, 2012

13

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

Ayako Hattori, Hirofumi Komaki, Masao Kawatani, Hiroshi Sakuma, Yoshiaki Saito, Eiji Nakagawa, Kenji Sugai, Masayuki Sasaki, Yukiko K. Hayashi, Ikuya Nonaka, Ichizo Nishino

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 283 KB

english, 2012

14

Cardiac and muscle imaging findings in a family with X-linked Emery–Dreifuss muscular dystrophy

Nicola Carboni, Marco Mura, Eugenio Mercuri, Giovanni Marrosu, Rosa C. Manzi, Eleonora Cocco, Vincenzo Nissardi, Franco Isola, Anna Mateddu, Elisabeta Solla, Maria A. Maioli, Valentina Oppo, Rachele P

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 207 KB

english, 2012

15

PTPN22 and myasthenia gravis: Replication in an Italian population and meta-analysis of literature data

Carlo Provenzano, Roberta Ricciardi, Flavia Scuderi, Maria Teresa Maiuri, Michelangelo Maestri, Francesca La Carpia, Antonella Sferrazza, Mariapaola Marino, Lucia Leone, Marco Lucchi, Alfredo Mussi, M

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 253 KB

english, 2012

16

Current status of the congenital myasthenic syndromes

Andrew G. Engel

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 1.08 MB

english, 2012

17

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

18

WMS 2012

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 22 KB

english, 2012

19

Course: Update in Neuromuscular Disorders

Journal:

Neuromuscular Disorders

Year:

2012

File:

PDF, 465 KB

2012

20

WMS 2012 flyer

Journal:

Neuromuscular Disorders

Year:

2012

File:

PDF, 987 KB

2012

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